| Entrez Gene ID |
40 (NCBI Gene) |
| Official Gene Symbol |
ASIC2 (GeneCards) |
| Number of variants in ASIC2 in this database |
14 (view all the variants) |
| Full name |
acid sensing ion channel subunit 2 |
| Band |
17q11.2-q12 |
| Other IDs |
Vega:
OTTHUMG00000132885
OMIM:
601784
HGNC:
HGNC:99
Ensembl:
ENSG00000108684
|
| Other names |
ACCN,
BNC1,
MDEG,
ACCN1,
BNaC1,
ASIC2a,
hBNaC1
|
| Summary |
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] |